research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
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research Variable Clinical Features of Temporal Triangular Alopecia
Temporal triangular alopecia may be linked to sebaceous nevus and shows a new pinkish background feature.
research Nevus comedonicus in a Malay man: A case report and review of literature
A 25-year-old Malay fireman had skin bumps on his neck that were removed successfully after other treatments failed.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Netherton Syndrome
A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
research Eruptive Vellus Hair Cysts: Report of a New Case with Immunohistochemical Study and Literature Review
Eruptive vellus hair cysts are rare, benign skin lesions that are hard to treat.
research Linear trichoepithelioma on the neck of a 15-year-old girl
A 15-year-old girl has a benign skin tumor on her neck.
research Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1 ‐deficient Jack Russell Terriers and response to topical ceramide
Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Reflectance confocal miscroscopy and dermoscopy analysis of a case of connective tissue nevi
Connective tissue nevi have distinct features, and reflectance confocal microscopy is useful for early diagnosis.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research A Rare Case of Cutis Verticis Gyrata with Underlying Cerebriform Intradermal Nevus
A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
research 152 Alopecia patterns in patients with autosomal receesive congenital ichthyosis
Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research ИХТИОЗ АРЛЕКИНО: КЛИНИЧЕСКИЙ СЛУЧАЙ
A newborn with ichthyosis was successfully treated using specific neonatal care methods.
research Congenital Combined Melanocytic Nevus of the Scalp With Associated Alopecia Areata
A man with a birthmark on his scalp developed hair loss that improved with treatment, but the link between the birthmark and hair loss was unclear.
research Exploring the Relationship Between Ichthyosis and Scalp Paresthesia: Potential Connection and Treatment Approach with Fluocinolone
Fluocinolone may help treat scalp symptoms in ichthyosis patients.
research Hypopigmented facial lesions: a case of eruptive tumor of follicular infundibulum
Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research A rare case of pigmented nodular alopecic lesion on the scalp
A man had a rare pigmented nodule on his scalp that developed from birthmarks.
research SUBEPIDERMAL CALCIFIED NODULE OF THE EAR IN A CHILD WITH HAIR FOLLICLE NEVUS
A 9-year-old boy had a calcium deposit nodule on his earlobe.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae
A man with scalp and neck skin issues improved after a year of oral isotretinoin.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Prioritization of therapy uncertainties in congenital ichthyosis: results from a Priority Setting Partnership
The top research priorities for congenital ichthyosis include long-term side effects of oral retinoids, best topical treatments, and treatments for itch and hair loss.